Osteogenesis imperfecta
Gene: PLOD2EnsemblGeneIds (GRCh38): ENSG00000152952
EnsemblGeneIds (GRCh37): ENSG00000152952
OMIM: 601865, Gene2Phenotype
PLOD2 is in 6 panels
5 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PLOD2; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bruck syndrome; osteogenesis imperfecta
Publications
Variants in this GENE are reported as part of current diagnostic practice
Raymond Dalgleish (University of Leicester)
https://oi.gene.le.ac.uk/home.php?select_db=PLOD2Created: 8 Dec 2015, noon
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Expert
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- Bruck syndrome
- osteogenesis imperfecta
- OMIM
- 601865
- Clinvar variants
- Variants in PLOD2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PLOD2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PLOD2 were set to Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Bruck syndrome; osteogenesis imperfecta
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PLOD2 were set to 22689593
Set Mode of Inheritance
Chris Boustred (Genomics England)Mode of inheritance for PLOD2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PLOD2 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)PLOD2 was added to Osteogenesis Imperfecta panel. Sources: Expert